Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal–Hreidarsson syndrome

Approximately half of all cases of Hoyeraal–Hreidarsson syndrome (HHS), a multisystem disorder characterized by bone marrow failure, developmental defects and very short telomeres, are caused by germline mutations in genes related to telomere biology. However, the varying symptoms and severity of th...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Cell Death Dis
Auteurs principaux: Bergstrand, Sofie, Böhm, Stefanie, Malmgren, Helena, Norberg, Anna, Sundin, Mikael, Nordgren, Ann, Farnebo, Marianne
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2020
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7165179/
https://ncbi.nlm.nih.gov/pubmed/32303682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41419-020-2421-4
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires